Personal genetic testing has been available on the direct consumer markets for several years. Companies such as 23andMe and Ancestry.com use a simple cheek swab to collect DNA data. The data can then be instantly uploaded and analyzed by other websites for genetic mutations related to potential health issues. While this seems like the utterly amazing future of health care, when it comes to children’s health care, we must be clear in our intentions and goals when considering genetic testing.

For a child without current health issues, genetic testing does not always translate into a complete roadmap to health, wellness, and disease prevention. For a child with current health issues, genetic testing can contribute significantly to treating and understanding the health concern. So, for the child without health issues, we must consider the overall benefit to genetic testing.

A common genetic mutation parents are concerned with testing to prevent future disease is on the MTHFR gene which is responsible for a process called methylation and contributes to our ability to process and utilize B vitamins, specifically folate. The common mutations associated with possible disease on the MTHFR gene are C677t and A1298c. Individuals with MTHFR gene mutations can have elevated levels of a body substance called homocysteine which can cause increased risk of heart disease, chronic fatigue, birth defects, and possibly compromised detoxification pathways. The treatment for correcting insufficiencies in methylation from MTHFR mutations are taking methylated B vitamins, methylfolate, and certain nutrients to improve detox pathways and cell health such as n-acetyl-cysteine, acetyl carnitine, and CoQ10.

The concern with testing early for MTHFR mutations is specifically how to treat a genetic mutation with no currently known physical expression. A child may have several unexpressed genetic mutations, and while treating one mutation a separate biological pathway with compromised genetic mutations may be activated. For example, if a child has MTHFR genetic mutations and COMT genetic mutations, the child could become compromised if the treatment for MTHFR was enacted. The COMT mutations benefit from low-dose, pulsated B vitamin supplementation every other day while MTHFR is commonly treated with daily dose of methylated B vitamins. The treatment for one mutation could oppose the treatment for another genetic mutation. It can become very complicated, very quickly.

The idea to remember with genetic mutations of no known physical expression is that the mutations indicate ‘tendency, not destiny’ meaning, identifying genetic make-up may give insight into risk factors, not physical ailment guarantees.

It is wise to be aware of a child’s genetic mutations and genetic make-up. The knowledge makes a parent keen to earlier health changes based on genetic mutation and the mutation’s effects on a child. However, the concern lies in pre-treating genetic mutations as treatments for prevention of possible disease may have unknown consequences. If a parent chooses to assess genetic mutations in their child, it is highly advisable that the parent discusses the results and possible prevention techniques with a doctor well versed and experienced in genetic mutations and prevention.

Shannon Sinsheimer, ND, is state licensed naturopathic doctor with a focus on fertility, family wellness, and pre-conception health. She can be reached at Optimal Health Center
(760) 568.2598.